KIAA0020 KIAA0020 [Homo sapiens] - Gene

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Summary

Official Symbol: KIAA0020provided by HGNC
Official Full Name: KIAA0020provided by HGNC
Primary source: HGNC:29676
Locus tag: RP11-526D20.2
See related: Ensembl:ENSG00000080608; HPRD:08822; MIM:609960; Vega:OTTHUMG00000019450
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PEN; PUF6; XTP5; HLA-HA8; MGC8749; RP11-526D20.2

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Genomic context

Location :: 9p24.2

Sequence :: Chromosome: 9; NC_000009.11 (2804152..2844130, complement)

See KIAA0020 in Epigenomics, MapViewer

Chromosome 9 - NC_000009.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Degree of predicted minor histocompatibility antigen mismatch correlates with poorer clinical outcomes in nonmyeloablative allogeneic hematopoietic cell transplantation.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q15397	Q86YV9	HPS6	HPRD	PubMed
BioGRID:115259	BioGRID:107252	CALM1	BioGRID	PubMed	Reconstituted Complex
BioGRID:115259	BioGRID:113188	SUMO1	BioGRID	PubMed	Reconstituted Complex
BioGRID:115259	BioGRID:112497	SUMO2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115259	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:115259	BioGRID:1205541	tat	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
RNA binding	IEA Inferred from Electronic Annotation more info
binding	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: pumilio domain-containing protein KIAA0020

Names: pumilio domain-containing protein KIAA0020; penguin homolog; HBV XAg-transactivated protein 5; HBV X-transactivated gene 5 protein; minor histocompatibility antigen HA-8; protein 5 transactivated by hepatitis B virus X antigen (HBxAg)

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_014878.4 → NP_055693.4 pumilio domain-containing protein KIAA0020

Status: VALIDATED

Source sequence(s)

AL832239, AL832245, BC016137, DA358022

Consensus CDS

CCDS6448.2

UniProtKB/Swiss-Prot

Q15397

Related

ENSP00000380982, OTTHUMP00000020987, ENST00000397885, OTTHUMT00000051529

Conserved Domains (2) summary

pfam08144
Location:433 – 580
Blast Score: 614

CPL; CPL (NUC119) domain

cl02427
Location:162 – 403
Blast Score: 157

Pumilio; Pumilio-family RNA binding domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000009.11 Reference GRCh37.p5 Primary Assembly

Range

2804152..2844130, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000141.1 Alternate HuRef

Range

2759220..2799199, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001031691.1: Suppressed sequence

Description

NM_001031691.1: This RefSeq was permanently suppressed because it is redundant with an existing reference sequence (NM_014878.4) for this locus.

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL354723.17	CAI15123.2
genomic	AL589675.5	CAI12924.2
genomic	CH471071.2	EAW58802.1
mRNA	AF490254.1	AAO85462.1
mRNA	AK225953.1	None
mRNA	AK292169.1	BAF84858.1
mRNA	AK315531.1	BAG37911.1
mRNA	AL832239.1	None
mRNA	AL832245.1	None
mRNA	AY047588.1	AAL06072.1
mRNA	AY047589.1	AAL06073.1
mRNA	AY047590.1	AAL06074.1
mRNA	BC016137.2	AAH16137.2
mRNA	CR456957.1	CAG33238.1
mRNA	D13645.1	BAA02808.1
mRNA	DA358022.1	None